MDS-Research - Projects

CHIP Research - Clonal hematopoiesis of indeterminate potential (CHIP) is at the crossroads of ageing, cardiovascular disease, and cancer, as it can progress to a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). In our research we will use different sequencing techniques (eg, Whole Exome Sequencing and Whole Genome Sequencing) to identify patients with CHIP who may be prone to develop hematological malignancy and/or cardiovascular complications. This will include patients with germline mutations in the BRCA1/2 cancer predisposition genes who seem to be particularly prone to develop clonal hematopoiesis after chemotherapy and/or treatment with PARP inhibitors. In addition, individuals experiencing premature cardiovascular diseases but not presenting the typical risk factors will undergo screening for mutations associated with CHIP. Machine learning will be used to correlate the clinical course of disease with patterns of mutational and cytogenetic clonal evolution, harnessing cytomorphologic, histopathologic, and chromosomal data, as well as follow-up assessments of variant allele fraction (VAF).

Pathophysiology of the ring siderblastic phenotype - Our aim is to decifering the pathophysiology of the ring sideroblastic phenotype (mitochondrial iron overload of erythroblasts) in patients with myelodysplastic syndromes (MDS). Furthermore, we are investigating hematopoetic stem cell differentiation, particularly under the influence of inhibition of the NEDDylation pathway with Pevonedistat, and we are searching for new prognostic biomarkers in MDS using multicolour immun­histo­chemistry on a tissue microarray.

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